| Affiliation: | 1.Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute,Tehran University of Medical Sciences,Tehran,Iran;2.Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute,Tehran University of Medical Sciences,Tehran,Iran;3.Biosensor Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute,Tehran University of Medical Sciences,Tehran,Iran;4.Division of Endocrinology and Metabolism, Department of Pediatrics,Children’s Medical Center, Pediatric Center of Excellence,Tehran,Iran;5.EMRI, Dr Shariati Hospital,Tehran,Iran |
| Abstract: | Most patients with Wolfram syndrome carry mutations in WFS1, while a lower percentage present a mutation in CISD2 (also known as WFS2). The aim of this study was to investigate the presence of mutations in exon 8 of WFS1 gene in two Iranian patients with Wolfram syndrome (WFS). In this study using polymerase chain reaction (PCR) followed by direct sequencing, we screened the entire length of WSF1 gene exon 8 for presence of mutations. Patients included were two male subjects who developed diabetes mellitus earlier than the age of 8 years old, showing early-onset diabetes, followed by reduced visual acuity, deafness, and diabetes insipidus. The presence of two missense mutations G736D and R629W were confirmed. These mutations have been previously reported in patients with WFS in other populations. Identification of pathogenic mutations in patients with Wolfram syndrome will be helpful in earlier diagnosis of the disease and in understanding the frequency of mutations in various populations and their relation with clinical features of Wolfram syndrome. |
